Annotation Detail
Information
- Associated Genes
- MTHFD1
- Associated Variants
-
MTHFD1 p.Arg653Gln (p.R653Q)
(
ENST00000557539.2,
ENST00000697174.1,
ENST00000554768.6,
ENST00000697173.1,
ENST00000545908.6,
ENST00000557370.3,
ENST00000652337.1,
ENST00000697168.1 )
MTHFD1 p.Arg653Gln (p.R653Q) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Subjects with the genotype AA of the MTHFD variant (rs2236225) had a significantly lower likelihood of T2DM compared with subjects with the GG or GG+GA genotypes (OR = 0.36 for AA vs. GG, p = 0.027; OR = 0.36 for AA vs. GG+GA, p = 0.017, respectively).
- Pubmed
- 25074646
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2014
Drugs